|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
A mutation scanning of exons and flanking regions of PGRN was carried out in 120 patients with sporadic frontotemporal lobar degeneration and 145 with sporadic AD.
|
18752597 |
2008 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Participants from the Alzheimer's Disease Neuroimaging Initiative cohort (ADNI; n = 1,239), with both MRI scans and genotype data, were used to assess the association between brain atrophy and previously identified HS-Aging risk SNPs in the following genes: GRN, TMEM106B, ABCC9, and KCNMB2 (minor allele frequency for each is >30%).
|
27003218 |
2016 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Alzheimer's Disease Neuroimaging Initiative cohort (ADNI; n=237) data, combining both multiplexed proteomics CSF and genotype data, were used to assess the association between CSF analytes and risk SNPs in four genes (SNPs): GRN (rs5848), TMEM106B (rs1990622), ABCC9 (rs704180), and KCNMB2 (rs9637454).
|
28189700 |
2017 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Progranulin plasma levels were analyzed in a variety of FTLD phenotypes (n = 71), dementia of the Alzheimer type (DAT) (n = 22) and probable Lewy body dementia (n = 8), both latter groups presented with asymmetric perisylvian atrophy.
|
23724906 |
2013 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, HDDD1 is an FTLD-U caused by a PGRN mutation and is neuropathologically heterogeneous with Alzheimer disease as a common comorbidity.
|
17334266 |
2007 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in progranulin (GRN) cause heterogeneous clinical syndromes, including behavioral variant frontotemporal dementia (bvFTD), primary progressive aphasia (PPA), corticobasal syndrome (CBS) and Alzheimer-type dementia (AD-type dementia).
|
30921613 |
2019 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We identified 9 potentially pathogenic mutations in the AD-causal genes APP, PSEN1, PSEN2, and 6 mutations in a group of non-AD dementia-causal genes including the FTD-causal gene GRN and the VaD-causal gene NOTCH3.
|
30954774 |
2019 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
C9orf72 repeat expansions were present in 0.4 % of AD and in 9.9 % of FTD patients, whereas MAPT and GRN mutations both were present in 0.4 % in AD patients, and in 1.4 % resp.2.7 % in FTD patients.
|
25108559 |
2014 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To describe the prevalence of systemic autoimmune disease in semantic variant primary progressive aphasia (svPPA), a clinical cohort, and in progranulin (PGRN) mutation carriers compared with neurologically healthy normal controls (NC) and Alzheimer's disease (AD) as dementia controls.
|
23543794 |
2013 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations of GRN were also identified, but their effects are not completely clear, in particular unanswered is the question of what neuropathology they elicit, also considering that their occurrence has been reported in patients with typical clinical features of Alzheimer disease.
|
27997711 |
2018 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
PGRN mutations were also identified in other neurodegenerative brain diseases such as amyotrophic lateral sclerosis and Alzheimer disease, though their biologic contribution to these diseases remains elusive.
|
18838661 |
2008 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
GRN mutation cases are quantitatively different from sporadic cases, while cases with associated HS and AD have increased densities of dystrophic neurites and abnormally enlarged neurones respectively.
|
21696412 |
2012 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
These data suggest that genetic variability in the GRN gene may also increase the risk for developing AD in a gender-specific manner.
|
19016491 |
2009 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
rs5848 variant of progranulin gene is a risk of Alzheimer's disease in the Taiwanese population.
|
21212639 |
2011 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Here we undertook a systematic study of nonverbal sound processing in patient groups with canonical dementia syndromes comprising clinically diagnosed typical amnestic Alzheimer's disease (AD; n=21), progressive nonfluent aphasia (PNFA; n=5), logopenic progressive aphasia (LPA; n=7) and aphasia in association with a progranulin gene mutation (GAA; n=1), and in healthy age-matched controls (n=20).
|
21689671 |
2011 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Because the penetrance rate of the clinical phenotype of carriers of GRN mutations is age-dependent, further research is required to investigate the role of co-occurring age-related pathologies such as AD, PART, and cerebral small vessel disease.
|
29370838 |
2018 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our data indicate that TT allele of rs5848 is associated with increased risk of AD, suggesting that genetic variant of progranulin gene may play an important role in AD development.
|
24680777 |
2014 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We describe 2 patients with progranulin gene mutations and evidence of Alzheimer disease (AD) pathology.We also conducted a literature review.
|
23609919 |
2013 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The phenotypes associated with GRN mutations vary greatly: 20/32 (63%) carriers had fvFTD, the other (12/32, 37%) had clinical diagnoses of PPA, CBDS, Lewy body dementia or Alzheimer's disease.
|
18245784 |
2008 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In this large kindred, most affected individuals had clinical presentations that resembled Alzheimer disease or amnestic mild cognitive impairment associated with a mutation in PGRN and underlying FTLD-U with NII neuropathologic abnormalities.
|
20142525 |
2010 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this meta-analysis was to investigate the association between progranulin polymorphism rs5848 and risk of the neurodegenerative diseases frontotemporal lobar degeneration (FTLD), Alzheimer's disease (AD), Parkinson's disease (PD), and amyotrophic lateral sclerosis (ALS).
|
25578179 |
2015 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To assess the influence of rs5848 and rs646776 polymorphisms in both serum GRN level and risk for common neurodegenerative diseases, we studied 304 patients with Parkinson's disease (PD), 217 individuals with Alzheimer's disease, 131 subjects with mild cognitive impairment, and 126 controls.
|
23398167 |
2013 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Progranulin (PGRN) mutations are associated with different clinical phenotypes, including frontotemporal lobar degeneration (FTLD), corticobasal syndrome (CBS) and Alzheimer's disease (AD).
|
24022032 |
2014 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We carried out an association study of BAG1 in a population of 291 patients clinically diagnosed with frontotemporal lobar degeneration (FTLD), none of whom was a carrier of mutations in progranulin or microtubule associated protein tau genes and 374 with AD as compared with 314 age- and gender-matched controls.
|
21157029 |
2011 |